Atlas of Genetics and Cytogenetics in Oncology and Haematology

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Table of Content

1. Chronic Myeloproliferative Diseases (MPD)

2. Myelodysplastic Syndromes (MDS)

3. Treatment Related Leukaemias (t-AML)

4. Acute Myeloid Leukaemias (AML)

5. B-Cell Acute Lymphocytic Leukaemias (B-ALL)

6. T-Cell Acute Lymphocytic Leukaemias (T-ALL)

7. Non Hodgkin Lymphomas and Chronic Lymphoproliferative Diseases (NHL and CLD)

Classification of B-cell non-Hodgkin's lymphomas (NHL)
Classification of B-cell chronic lymphoproliferative disorders (CLD)
Classification of Hodgkin lymphoma over years
t(10;14)(q24;q32) (B-NHL; NFKB2 and IGH; rare)
t(10;14)(q24;q32) NFKB2::IGH
t(11;14)(q13;q32) IGH::CCND1
t(11;14)(q13;q32) IGH::CCND1 in multiple myeloma
t(11;14)(p13;q32) IGH::CD44
t(11;18)(q21;q21) BIRC3::MALT1
t(11;19)(q13;p13) FSTL3::CCND1
t(1;14)(p35;q32) LAPTM5::IGH
t(1;14)(q21;q32) FCGR2B::IGH
t(1;14)(q21;q32) FCRL4::IGH
t(1;14)(q21;q32) MUC1::IGH
t(1;14)(p22;q32) IGH::BCL10
t(1;2)(p22;p12) IGK::BCL10
del(11q) in non-Hodgkin's lymphoma (NHL)
1q rearrangements in multiple myeloma
t(1;22)(p36;q11) IGL::PRDM16
12p rearrangements in CLL
t(1;2)(q25;p23) TPM3::ALK
+12 or trisomy 12
del(13q) in chronic lymphoproliferative diseases
del(13q) in chronic lymphocytic leukemia
del(13q) in multiple myeloma
del(13q) in non-Hodgkin's lymphoma
t(1;3)(q25;q27) GAS5::BCL6
t(14;15)(q32;q11) IGH::NBEAP1
t(14;16)(q32;q23) IGH::MAF
t(14;18)(q32;q21) IGH::MALT1
t(14;19)(q11;q13) TRA::NECTIN2
t(14;20)(q32;q12) IGH::MAFB in Plasma Cell Myeloma
t(14;22)(q32;q11) IGH::IGL
Multiple Myeloma
t(1;6)(p35;p25) ?::IRF4
del(17p) in non-Hodgkin's lymphoma (NHL)
t(1;1)(p36;q21) in Non Hodgkin Lymphoma
t(2;11)(p23;q12.3) EEF1G::ALK
t(12;14)(p13;q32) IGH::CCND2
t(12;22)(p13;q11) IGL::CCND2
t(2;12)(p12;p13) IGK::CCND2
t(14;19)(q32;q13.3) IGH::BCL3
t(19;22)(q13.3;q11) BCL3::IGL
t(2;19)(p12;q13.3) IGK::BCL3
t(2;17)(p23;q23) CLTC::ALK
t(2;17)(p23;q25) RNF213::ALK
t(2;18)(p11;q21)IGK::BCL2 and IGK/KDSR
t(2;18)(q11;q21) AFF3::BCL2
t(2;19)(p23;p13) TPM4::ALK
t(2;22)(p13;q11) (NHL; REL and IgL; rare)
t(2;22)(p23;q11) CLTCL1::ALK
t(2;22)(p23;q11) MYH9::ALK
t(2;3)(p12;q27) IGK::BCL6
t(3;14)(q27;q32) IGH::BCL6
t(3;22)(q27;q11) IGL::BCL6
t(2;3)(p23;q21) TFG::ALK
t(2;5)(p23;q35) NPM1::ALK
t(2;5)(p23;q35) SQSTM1::ALK
t(2;6)(p12;p25) IRF4::IGK
t(6;14)(p25;q32) IRF4::IGH
t(6;22)(p25;q11) IRF4::IGL
t(2;7)(p11;q21) IGK::CDK6
t(7;14)(q21;q11) TRA::CDK6
t(7;14)(q21;q32) IGH::CDK6
t(7;22)(q21;q11) IGL::CDK6
t(2;8)(p15;q24) BCL11A::MYC
t(2;9)(p23;q33) TRAF1::ALK
inv(2)(p23q35) ATIC::ALK
t(3;11)(q27;q23) POU2AF1::BCL6
t(3;12)(q27;p12) LRMP::BCL6
t(3;12)(q27;p13) GAPDH::BCL6
t(3;12)(q27;q23) (NHL; BCL6 and NACA; rare)
t(3;13)(q27;q14) LCP1::BCL6
t(3;14)(p14;q32) IGH::FOXP1
t(3;16)(q27;p11) IL21R::BCL6
t(3;16)(q27;p13) CIITA::BCL6
t(3;19)(q27;q13) NAPA::BCL6
3q27 rearrangements (BCL6) in non Hodgkin lymphoma
t(3;Var)(q27;Var) in non Hodgkin lymphoma
t(3;4)(q27;p13) RHOH::BCL6
t(3;6)(q27;p21) SRSF3::BCL6
t(3;6)(q27;p21) PIM1::BCL6
t(3;6)(q27;p22) HIST1H4I::BCL6
t(3;6)(q27;q14) SNHG5::BCL6
t(3;6)(q27;q15) ?::BCL6
t(3;7)(q27;p12) IKZF1::BCL6
t(3;7)(q27;q32) MIR29A::BCL6
t(3;7)(q27;q32) FRA7H::BCL6
t(3;8)(q27;q24) BCL6::MYC
Polyclonal B Lymphocytosis with Binucleated Lymphocytes (PPBL)
t(3;9)(q26;p23) ?::MECOM
t(3;9)(q27;p13) GRHPR::BCL6
t(3;9)(q27;p24) DMRT1::BCL6
i(3)(q10) in non-Hodgkin's lymphoma (NHL)
t(3;3)(q25;q27) MBNL1::BCL6
del(3)(q27q27) ST6GAL1::BCL6
t(3;3)(q27;q27) ST6GAL1::BCL6
t(3;3)(q27;q28) EIF4A2::BCL6
t(3;3)(q27;q29) TFRC::BCL6
+3 or trisomy 3 in non Hodgkin's lymphoma (NHL)
t(4;12)(p16;p13) ETV6::FGFR3
t(4;14)(p16;q32) IGH::FGFR3 and WHSC1
t(4;16)(q26;p13) IL2::TNFRSF17
t(4;9)(q21.22;p24) SEC31A::JAK2
t(5;9)(q33;q22) ITK::SYK
t(6;10)(q22;q24) NFKB2::ROS1
t(6;12)(q22;q24) NCOR2::ROS1
t(6;14)(p21;q32) IGH::CCND3
t(6;14)(p25.3;q11.2) TRA::IRF4
t(6;20)(q15;q11.2) BACH2::BCL2L1
t(6;7)(p25.3;q32.3) DUSP22::FRA7H
Lymphomatoid papulosis (LyP) with 6p25.3 rearrangement DUSP22 and IRF4::
del(6q) in Multiple Myeloma
Del(6q) in Chronic lymphocytic leukaemia (CLL)
t(7;14)(q21;q32) ERVW-1::IgH
t(7;8)(p12;q24) ::MYC
del(7q) in non-Hodgkin's lymphoma (NHL)
t(8;12)(q24;p12) LRMP::MYC
t(8;12)(q24;q22) BTG1::MYC
t(8;17)(q24;q22) ???BCL3::MYC
t(9;14)(p13;q32) PAX5::IGH
t(9;17)(q34;q23) ( NHL; - ; rare)
Adult T-cell leukemia::lymphoma (ATLL)
Primary Cutaneous CD8 Aggressive Epidermotropic Cytotoxic T Cell Lymphoma
Aggressive natural killer leukemia (ANKL)
Anaplastic large cell lymphoma, ALK-negative
ALK -positive diffuse large B-cell lymphoma
Alpha heavy chain disease
Anaplastic B-cell lymphoma
Anaplastic large cell lymphoma (ALCL)
Angioimmunoblastic T-cell lymphoma
Classification of B-cell chronic lymphoproliferative disorders (CLD)
Classification of B-cell non-Hodgkin lymphomas (NHL)
B-cell prolymphocytic leukemia (B-PLL) (published in 1998)
B-cell Prolymphocytic Leukemia
Breast implant-associated anaplastic large cell lymphoma
Burkitt's lymphoma (BL)
Castleman's disease
Centroblastic lymphoma
Classical Hodgkin lymphoma
Classical Hodgkin lymphoma type PTLD
Classification of Hodgkin lymphoma over years
Chronic lymphocytic leukaemia (CLL)
Cutaneous T-cell lymphomas
Diffuse red pulp small B-cell lymphoma
Disseminated Juvenile Xanthogranuloma
DLBCL subtype: Extranodal lymphoma
Primary DLBCL of the central nervous system (CNS)
Primary cutaneous DLBCL, leg type
Germinal center B-cell-like diffuse Large B-cell Lymphoma (GCB) DLBCL
Diffuse large cell lymphoma
Double Hit Lymphoma (DHL)
Triple Hit Lymphoma (THL)
EBV positive DLBCL, NOS
Systemic EBV-positive T-cell lymphoma of childhood
Extranodal NK::T-cell lymphoma, nasal type (ENKL)
Fibroblastic Reticular Cell Tumor
Fibrogenesis imperfecta ossium
Florid follicular hyperplasia PTLD
Follicular dendritic cell in lymphomas of follicular origin
Follicular Dendritic Cell Sarcoma
Follicular lymphomas of germinal center (B- or T-cell) origin
Follicular lymphoma (FL)
Gamma heavy chain disease
Hairy Cell Leukemia (HCL) and Hairy Cell Leukemia Variant (HCL-V)
Heavy chain diseases
Hepatosplenic T-cell lymphoma (HSTCL)
Histiocytic Sarcoma
Hodgkin lymphoma
Immunoblastic lymphoma
Indeterminate Dendritic Cell Tumor
Infectious mononucleosis-like PTLD
Interdigitating Dendritic Cell Sarcoma
B-cell lymphoma, unclassifiable, with features intermediate between diffuse large B-cell lymphoma and classical Hodgkin lymphoma
Intestinal T-cell lymphoma
Langerhans cell sarcoma
Langerhans cell histiocytosis
Lymphoplasmacytic lymphoma
Lymphocyte depletion classical Hodgkin lymphoma
Lymphoepithelioid lymphoma
HIV-associated lymphomas
Lymphocyte-rich classical Hodgkin lymphoma
Mucosa-associated lymphoid tissue (MALT) lymphoma
Mantle cell lymphoma
Marginal Zone B-cell lymphoma
Mediastinal Gray Zone Lymphoma
Mixed cellularity classical Hodgkin lymphoma (MCcHL)
Multiple myeloma (published in 2004)
Monomorphic PTLD (B- and T::NK-cell types)
Mu heavy chain disease
Mycosis fungoides::Sezary's syndrome
Nasal T cell lymphoma (published in 2008)
Nodal marginal zone lymphoma (NMZL)
Nodular lymphocyte-predominant Hodgkin lymphoma
Nodular sclerosis classical Hodgkin lymphoma (NScHL)
Ocular adnexal marginal zone lymphoma (OAMZL)
Pediatric-type Follicular Lymphoma
Peripheral T-cell lymphoma not otherwise specified (PTCL-NOS)
Plasmablastic lymphoma (PBL)
Plasma cell leukemia (PCL)
Polymorphic PTLD
Primary cutaneous CD30+ anaplastic large cell lymphoma
Primary Cutaneous B-Cell Lymphomas
Primary gastric lymphoma
Primary mediastinal B-cell lymphoma (PMBL)
Small lymphocytic lymphoma
Splenic lymphoma with villous lymphocytes (SLVL) in 2005
Subcutaneous panniculitis-like T-cell lymphoma
Classification of T-Cell disorders
T-cell::histiocyte rich large B-cell lymphoma
T-cell large granular lymphocyte leukaemia
T-cell prolymphocytic leukemia (T-PLL)
Histiocyte-rich B-cell lymphoma
Waldenstrom's macroglobulinemia (published in 2002)
Waldenstrom macroglobulinemia
Plasmacytoma (Solitary bone plasmacytoma, extramedullary plasmacytoma)
t(X;11)(q21;q23) BRWD3::ARHGAP20
t(X;14)(p11.4;q32.33) IGH::GPR34
t(X;14)(q28;q11.2) TRA-TRD::MTCP1
t(X;7)(q28;q34) TRB::MTCP1
t(X;2)(q11;p23) MSN::ALK
+X solely in lymphomas

8. Not Classified

Phylum and Thesaurus of Hematological malignancies (full table)

detailed descriptionICD-O3 code
Myeloproliferative neoplasms 
Chronic myelogenous leukaemia, BCR-ABL1 positive9975/3
Chronic neutrophilic leukaemia9963/3
Polycythaemia vera9950/3
Primary myelofibrosis9961/3
Essential thrombocythaemia9962/3
Chronic eosinophilic leukaemia, NOS9964/3
Cutaneous mastocytosis9740/3
Systemic mastocytosis9741/3
Mast cell leukaemia9742/3
Mast cell sarcoma9740/3
Extracutaneous mastocytoma9740/1
Myeloproliferative neoplasm, unclassifiable9975/3
Myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB or FGFR1 
Myeloid and lymphoid neoplasms with PDGFRA rearrangement9965/3
Myeloid and lymphoid neoplasms with PDGFRB rearrangement9966/3
Myeloid and lymphoid neoplasms with FGFR1 rearrangement9967/3
Myelodysplastic/myeloproliferative neoplasms 
Chronic myelomonocytic leukaemia9945/3
Atypical chronic myeloid leukaemia, BCR-ABL1 negative9876/3
Juvenile myelomonocytic leukaemia9946/3
Myelodysplastic/myeloproliferative neoplasm, unclassifiable9975/3
Refractory anemia with ring sideroblasts associated with marked thrombocytosis9982/3
Myelodysplastic syndromes 
Refractory anemia9980/3
Refractory neutropenia9991/3
Refractory thrombocytopemia9992/3
Refractory anaemia with ring sideroblasts9982/3
Refractory cytopenia with multilineage dysplasia9985/3
Refractory anaemia with excess blasts9983/3
Myelodysplastic syndrome with isolated del(5q)9986/3
Myelodysplastic syndrome, unclassifiable9989/3
Childhood myelodysplastic syndromeNS
Refractory cytopenia of childhood9985/3
Acute myeloid leukaemia (AML) and related precursor neoplasms 
AML with t(8;21)(q22;q22); RUNX1-RUNX1T19896/3
AML with inv(16)(p13.1q22) or t(16;16)(p13.1;q22); CBFB-MYH119871/3
Acute promyelocytic leukaemia with t(15;17)(q22;q12); PML-RARA9866/3
AML with t(9;11)(p22;q23); MLLT3-MLL9897/3
AML with t(6;9)(p23;q34); DEK-NUP214v 9865/3
AML with inv(3)(q21q26.2) or t(3;3)(q21;q26.2);RPN1-EVI19869/3
AML (megakaryoblastic) with t(1;22)(p13;q13);RBM15-MKL19911/3
AML with mutated NPM19861/3
AML with mutated CEBPA9861/3
AML with myelodysplasia-related changes9895/3
Therapy-related myeloid neoplasms9920/3
Acute myeloid leukaemia, NOS9861/3
AML with minimal differentiation9872/3
AML without maturation9873/3
AML with maturation9874/3
Acute myelomonocytic leukaemia9867/3
Acute monoblastic and monocytic leukaemia9891/3
Acute erythroid leukaemia9840/3
Acute megakaryoblastic leukaemia9910/3
Acute basophilic leukaemia9870/3
Acute panmyelosis with myelofibrosis9931/3
Myeloid sarcoma9872/3
Transient abnormal myelopoiesis9898/1
Myeloid leukaemia associated with Down syndrome9898/3
Blastic plasmacytoid dendritic cell neoplasm9727/3
Acute leukaemias of ambiguous lineage 
Acute undifferentiated leukaemia9801/3
Mixed phenotype acute leukaemia with t(9;22)(q34;q11.2); BCR-ABL19806/3
Mixed phenotype acute leukaemia with t(v;11q23); MLL rearranged9807/3
Mixed phenotype acute leukaemia, B/myeloid, NOS 1529808/3
Mixed phenotype acute leukaemia, T/myeloid, NOS 1539809/3
Mixed phenotype acute leukaemia, NOS - rare typesNS
Other ambiguous lineage leukaemiasNS
Natural killer (NK)-cell lymphoblastic leukaemia/lymphomaNS
Precursor lymphoid neoplasms 
B lymphoblastic leukaemia/lymphoma, NOS9811/3
B lymphoblastic leukaemia/lymphoma with t(9:22)(q34;q11.2); BCR-ABL19812/3
B lymphoblastic leukaemia/lymphoma with t(v;11q23); MLL rearranged9813/3
B lymphoblastic leukaemia/lymphoma with t(12;21)(p13;q22); TEL-AML1 (ETV6-RUNX1)9814/3
B lymphoblastic leukaemia/lymphoma with hyperdiploidy9815/3
B lymphoblastic leukaemia/lymphoma with hypodiploidy (Hypodiploid ALL)9816/3
B lymphoblastic leukaemia/lymphoma with t(5;14)(q31;q32); IL3-IGH9817/3
B lymphoblastic leukaemia/lymphoma with t(1;19) (q23;p13.3); E2A-PBX1(TCF3-PBX1)9818/3
T lymphoblastic leukaemia/lymphoma9837/3
Mature B-cell neoplasms 
Chronic lymphocytic leukaemia /small lymphocytic lymphoma9823/3
B-cell prolymphocytic leukaemia9833/3
Splenic marginal zone lymphoma9689/3
Hairy cell leukaemia9940/3
Splenic B-cell lymphoma/leukaemia, unclassifiable9591/3
Splenic diffuse red pulp small B-cell lymphoma9591/3
Hairy cell leukaemia-variant9591/3
Lymphoplasmacytic lymphoma9671/3
Waldenstrom macroglobulinemia9761/3
Heavy chain diseases9762/3
Gamma heavy chain disease9762/3
Mu heavy chain disease9762/3
Alpha heavy chain disease9762/3
Plasma cell neoplasms-
Monoclonal gammopathy of undetermined significance (MGUS)9765/1
Plasma cell myeloma / Multiple myeloma9732/3
Solitary plasmacytoma of bone9731/3
Extraosseous plasmacytoma9734/3
Monoclonal immunoglobulin deposition diseases-
Extranodal marginal zone lymphoma of mucosa- associated lymphoid tissue (MALT lymphoma)9699/3
Nodal marginal zone lymphoma9699/3
Paediatric nodal marginal zone lymphoma9699/3
Follicular lymphoma9690/3
Paediatric follicular lymphoma9690/3
Primary cutaneous follicle centre lymphoma9597/3
Mantle cell lymphoma9673/3
Diffuse large B-cell lymphoma (DLBCL), NOS9680/3
T cell/histiocyte-rich large B-cell lymphoma9688/3
Primary DLBCL of the CNS9680/3
Primary cutaneous DLBCL, leg type9680/3
EBV positive DLBCL of the elderly9680/3
DLBCL associated with chronic inflammation9680/3
Lymphomatoid granulomatosis9766/3
Primary mediastinal (thymic) large B-cell lymphoma9679/3
Intravascular large B-cell lymphoma9712/3
ALK positive large B-cell lymphoma9737/3
Plasmablastic lymphoma9735/3
Large B-cell lymphoma arising in HHV8-associated multicentric Castleman disease9738/3
Primary effusion lymphoma9678/3
Burkitt lymphoma9687/3
B-cell lymphoma, unclassifiable, with features intermediate between DLBCL and Burkitt lymphoma9680/3
B-cell lymphoma, unclassifiable, with features intermediate between DLBCL and classical Hodgkin lymphoma9596/3
Mature T- and NK-cell neoplasms 
T-cell prolymphocytic leukaemia9834/3
T-cell large granular lymphocytic leukaemia9831/3
Chronic lymphoproliferative disorder of NK cells9831/3
Aggressive NK cell leukaemia9948/3
Systemic EBV+ T-cell lymphoproliferative disease of childhood9724/3
Hydroa vacciniforme-like lymphoma9725/3
Adult T-cell leukaemia/lymphoma9827/3
Extranodal NK/T-cell lymphoma, nasal type9719/3
Enteropathy-associated T-cell lymphoma9717/3
Hepatosplenic T-cell lymphoma9716/3
Subcutaneous panniculitis-like T-cell lymphoma9708/3
Mycosis fungoides9700/3
Sèzary syndrome9701/3
Lymphomatoid papulosis9718/1
Primary cutaneous anaplasic large cell lymphoma9718/3
Primary cutaneous peripheral T-cell lymphomas, rare subtypes
Primary cutaneous gamma-delta T-cell lymphoma9726/3
Primary cutaneous CD8 positive aggressive epidermotropic cytotoxic T-cell lymphoma9709/3
Primary cutaneous CD4 positive small/medium T-cell lymphoma9709/3
Peripheral T-cell lymphoma, NOS9702/3
Angioimmunoblastic T-cell lymphoma9705/3
Anaplastic large cell lymphoma, ALK positive9714/3
Anaplastic large cell lymphoma, ALK negative9702/3
Hodgkin lymphoma 
Nodular lymphocyte predominant Hodgkin lymphoma9659/3
Classical Hodgkin lymphoma9650/3
Nodular sclerosis classical Hodgkin lymphoma9663/3
Mixed cellularity classical Hodgkin lymphoma9652/3
Lymphocyte-rich classical Hodgkin lymphoma9651/3
Lymphocyte-depleted classical Hodgkin lymphoma9653/3
Immunodeficiency-associated lymphoproliferative disorders 
Lymphoproliferative diseases associated with primary immune disordersNS
Lymphomas associated with HIV infectionNS
Plasmatic hyperplasia9971/1
Infectious mononucleosis-like PTLD9971/1
Polymorphic PTLD9971/3
Monomorphic PTLD (B- and T/NK-cell types, classified according to the leukemia/lymphomato which they correspond)-
Classical Hodgkin lymphoma type PTLD-
Histiocytic and dendritic cell neoplasms 
Histiocytic sarcoma9755/3
Langerhans cell histiocytosis9751/3
Langerhans cell sarcoma9756/3
Interdigitating dendritic cell sarcoma9757/3
Follicular dendritic cell sarcoma9758/3
Intermediate dendritic cell tumour9759/3
Disseminated juvenile xanthogranulomaNS

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Thu Jan 20 18:14:53 CET 2022

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